Fisiopatologia de l'esclerosi lateral amiotròfica

Treballs Finals de Grau de Farmàcia, Facultat de Farmàcia, Universitat de Barcelona, 2015. Tutor: Manel Rabanal i Tornero[cat] L’esclerosi lateral amiotròfica (ELA) és una malaltia neurodegenerativa que produeix principalment la mort progressiva i irreversible de les motoneurones, encarregades de generar els moviments voluntaris dels músculs. A Espanya, cada any es diagnostiquen uns 900 casos d’aquesta malaltia i es calcula que 40.000 persones la desenvoluparan al llarg de la seva vida. Atès l’impacte mediàtic assolit a través de diferents campanyes solidàries engegades i la gran desconeixença d’aquesta malaltia, l’objectiu del present treball ha estat actualitzar els coneixements sobre la fisiopatologia de l’ELA. Per assolir aquest objectiu s’ha realitzat una recerca bibliogràfica actualitzada i s’ha contactat amb les associacions de pacients per validar la informació recopilada. Els resultats del treball mostren que entre el 5 i el 10% dels diagnosticats pateixen la forma genètica de la malaltia, mentre que la resta presenta l’ELA de manera esporàdica. Així mateix, es creu que la patogènia de la malaltia es deu a la presència d’inclusions citoplasmàtiques en les motoneurones que produeixen la seva degradació. D’altra banda, en l’actualitat, no existeix cap tractament curatiu contra l’ELA. Tan sols es troba comercialitzat el Riluzol (Rilutek®) des del 1997, que ofereix una relativa millora en la qualitat de vida. Atès que l’esperança de vida és d’uns tres anys després del diagnòstic, es tracta d’una malaltia amb un fort impacte des d’un punt de vista clínic i especialment, social tant pel pacient que la pateix com pels seus familiars.[eng] Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that causes the irreversible and progressive death of motor neurons, which are responsible for generating movements of voluntary muscles. In Spain there are about 900 diagnosed cases each year and it has been estimated that the disease develops within 40.000 people in a lifetime. Considering the media impact achieved through various solidarity campaigns and the great ignorance of this disease, the aim of this study is to update the knowledge about the pathophysiology of ALS. To achieve this goal, has been made bibliographic research and has been contacted with ALS patient associations to validate the information. The results of the study showed that between 5 to 10% of patients were diagnosed because of genetics, while the rest were diagnosed with ALS sporadically. Also, it is believed that the pathogenesis of the disease is due to the presence of cytoplasmic inclusions in motor neurons which produce the degradation. Moreover, there isn't currently cure for ALS. Riluzole (Rilutek®) has been the only marketed drug to relatively improve the illness and extend the lifetime since 1997. Since life expectancy is about three years after diagnosis, it is a disease with a strong impact from both a clinical point of view as well as the social aspect; the patient suffers as well as the family

L’Artritis reumatoide

Treballs d'Educació Farmacètica als ciutadans. Unitat Docent d'Estades en Pràctiques Tutelades. Facultat de Farmàcia, Universitat de Barcelona. Curs: 2014/2015, Tutors: David Berlana Martin, Ignasi Cardona Pascual i Marian March Pujol.L’artritis reumatoide és una malaltia autoimmunitària que afecta a tots els grups poblacionals, i que cursa amb inflamació de les articulacions. La seva etiologia és encara desconeguda, fet que provoca que sigui un camp d’interès actual d’investigació. El tractament de primera línia consisteix en l’administració d’antiinflamatoris, analgèsics i/o corticoides, per tal de calmar el dolor i controlar la inflamació. A més s’afegeix FAME’s per alentir la progressió de la malaltia. Si amb aquest tractament no és suficient per mantenir un control, es passa al de segona línia que consisteix en l’administració d’anticossos monoclonals (teràpia biològica). Amb l’elaboració d’aquest treball i la realització de les activitats proposades, hem aplicat el rol de farmacèutic en l’educació ciutadana, proporcionant informació als malalts d’artritis per tal de promoure la seva salut. Cal destacar la importància que no només el pacient, sinó també el seu entorn familiar coneguin les característiques i evolució de la malaltia, amb l’objectiu de millorar la qualitat de vida dels malalts

Exposure to natural environments during pregnancy and birth outcomes in 11 European birth cohorts

Research suggests that maternal exposure to natural environments (i.e., green and blue spaces) promotes healthy fetal growth. However, the available evidence is heterogeneous across regions, with very few studies on the effects of blue spaces. This study evaluated associations between maternal exposure to natural environments and birth outcomes in 11 birth cohorts across nine European countries. This study, part of the LifeCycle project, was based on a total sample size of 69,683 newborns with harmonised data. For each participant, we calculated seven indicators of residential exposure to natural environments: surrounding greenspace in 100m, 300m, and 500m using Normalised Difference Vegetation Index (NDVI) buffers, distance to the nearest green space, accessibility to green space, distance to the nearest blue space, and accessibility to blue space. Measures of birth weight and small for gestational age (SGA) were extracted from hospital records. We used pooled linear and logistic regression models to estimate associations between exposure to the natural environment and birth outcomes, controlling for the relevant covariates. We evaluated the potential effect modification by socioeconomic status (SES) and region of Europe and the influence of ambient air pollution on the associations. In the pooled analyses, residential surrounding greenspace in 100m, 300m, and 500m buffer was associated with increased birth weight and lower odds for SGA. Higher residential distance to green space was associated with lower birth weight and higher odds for SGA. We observed close to null associations for accessibility to green space and exposure to blue space. We found stronger estimated magnitudes for those participants with lower educational levels, from more deprived areas, and living in the northern European region. Our associations did not change notably after adjustment for air pollution. These findings may support implementing policies to promote natural environments in our cities, starting in more deprived areas

Green spaces and respiratory, cardiometabolic, and neurodevelopmental outcomes:An individual-participant data meta-analysis of >35.000 European children

Studies evaluating the benefits and risks of green spaces on children's health are scarce. The present study aimed to examine the associations between exposure to green spaces during pregnancy and early childhood with respiratory, cardiometabolic, and neurodevelopmental outcomes in school-age children. We performed an Individual-Participant Data (IPD) meta-analysis involving 35,000 children from ten European birth cohorts across eight countries. For each participant, we calculated residential Normalized Difference Vegetation Index (NDVI) within a 300 m buffer and the linear distance to green spaces (meters) during prenatal life and childhood. Multiple harmonized health outcomes were selected: asthma and wheezing, lung function, body mass index, diastolic and systolic blood pressure, non-verbal intelligence, internalizing and externalizing problems, and ADHD symptoms. We conducted a two-stage IPD meta-analysis and evaluated effect modification by socioeconomic status (SES) and sex. Between-study heterogeneity was assessed via random-effects meta-regression. Residential surrounding green spaces in childhood, not pregnancy, was associated with improved lung function, particularly higher FEV1 (β = 0.06; 95 %CI: 0.03, 0.09 I2 = 4.03 %, p &lt; 0.001) and FVC (β = 0.07; 95 %CI: 0.04, 0.09 I2 = 0 %, p &lt; 0.001) with a stronger association observed in females (p &lt; 0.001). This association remained robust after multiple testing correction and did not change notably after adjusting for ambient air pollution. Increased distance to green spaces showed an association with lower FVC (β = −0.04; 95 %CI: −0.07, −0.02, I2 = 4.8, p = 0.001), with a stronger effect in children from higher SES backgrounds (p &lt; 0.001). No consistent associations were found between green spaces and asthma, wheezing, cardiometabolic, or neurodevelopmental outcomes, with direction of effect varying across cohorts. Wheezing and neurodevelopmental outcomes showed high between-study heterogeneity, and the age at outcome assessment was only associated with heterogeneity in internalizing problems. This large European meta-analysis suggests that childhood exposure to green spaces may lead to better lung function. Associations with other respiratory outcomes and selected cardiometabolic and neurodevelopmental outcomes remain inconclusive.</p

Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD Cohort

© 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objective: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. Methods: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed. Results: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. Conclusions: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene-targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.Michael J. Fox Foundation for Parkinson's Research. Grant Number: ID 15015.02. NIHR Cambridge Biomedical Research Centre. Grant Number: BRC-1215-20014info:eu-repo/semantics/publishedVersio

Search for anomalous couplings in boosted WW/WZ -> l nu q(q)over-bar production in proton-proton collisions at root s=8TeV

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Measurement of the Splitting Function in &ITpp &ITand Pb-Pb Collisions at root&ITsNN&IT=5.02 TeV

Data from heavy ion collisions suggest that the evolution of a parton shower is modified by interactions with the color charges in the dense partonic medium created in these collisions, but it is not known where in the shower evolution the modifications occur. The momentum ratio of the two leading partons, resolved as subjets, provides information about the parton shower evolution. This substructure observable, known as the splitting function, reflects the process of a parton splitting into two other partons and has been measured for jets with transverse momentum between 140 and 500 GeV, in pp and PbPb collisions at a center-of-mass energy of 5.02 TeV per nucleon pair. In central PbPb collisions, the splitting function indicates a more unbalanced momentum ratio, compared to peripheral PbPb and pp collisions.. The measurements are compared to various predictions from event generators and analytical calculations.Peer reviewe

Search for top squark pair production in pp collisions at root s=13 TeV using single lepton events

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Search for new physics with dijet angular distributions in proton-proton collisions at root S = 13 TeV

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Measurement of vector boson scattering and constraints on anomalous quartic couplings from events with four leptons and two jets in proton-proton collisions at root s=13 TeV

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